STUDY: Whole Genome and Exon Capture Sequencing of Bladder Cancers
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One primary bladder cancer and paired peripheral blood sample were subjected to whole genome sequencing on an Illumina HiSeq 2000 platform. This technology was utilized to investigate the genetic basis of a durable remission of metastatic bladder cancer in a patient treated with everolimus, a drug that inhibits the mTOR (mammalian target of rapamycin) signaling pathway. Among the somatic mutations found was a loss-of-function mutation in TSC1 (Tuberous Sclerosis Complex 1), a regulator of mTOR pathway activation. Targeted sequencing using an exon capture and sequencing assay was performed on 13 tumors derived from patients on the same everolimus trial as the index patient and the sequencing data from these tumors is included. TSC1 mutation status was correlated with response to everolimus. The index patient responder tumor and peripheral blood DNA were also subjected to exon capture and sequencing.
Title Name Institute Co-Principal Investigator David Solit, MD Memorial Sloan-Kettering Cancer Center, New York, NY, USA Co-Principal Investigator Barry S. Taylor, PhD University of California, San Francisco, CA, USA Funding Source Michael and Zena Wiener for Therapeutic Program in Bladder Cancer Memorial Sloan-Kettering Cancer Center, New York, NY, USA Funding Source Stand Up to Cancer Dream Team Translational Research Grant Program of the Entertainment Industry Foundation Funding Source Mr. William H. Goodwin and Mrs. Alice Goodwin and the Commonwealth Foundation for Cancer Research Experimental Therapeutics Center, Memorial Sloan-Kettering Cancer Center, New York, NY, USA